Abstract：
:Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion. Studies of terminal and interstitial deletions in male patients with a partial nullisomy of the X chromosome have led to the identification of the VCX-3A gene at the MRX49 locus on Xp22.3. The NLGN4X gene has then been identified less than 350 kb away from VCX-3A. Nonsense mutations in NLGN4X have been associated with autism and/or moderate mental retardation in males. We report a 17-year old male patient presenting with severe ichthyosis and Kallmann syndrome related to a 3.7 Mb interstitial Xp22.3 deletion, encompassing STS and KAL1 genes, respectively. However, despite the deletion of NLGN4X and all VCX genes, including VCX-3A, our patient did not manifest any learning disabilities or behavioural problems. Therefore, our case argues against a major role of NLGN4X and the VCX genes alone in cognitive development and/or communication processes.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Mochel F,Missirian C,Reynaud R,Moncla Adoi
10.1016/j.ejmg.2007.11.002subject
Has Abstractpub_date
2008-01-01 00:00:00pages
68-73issue
1eissn
1769-7212issn
1878-0849pii
S1769-7212(07)00120-6journal_volume
51pub_type
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